Fktn fukutin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fktnprovided by MGI
Official Full Name: fukutinprovided by MGI
Primary source: MGI:MGI:2179507
See related: Ensembl:ENSMUSG00000028414 AllianceGenome:MGI:2179507
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fcmd; D830030O17Rik
Summary: Enables phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including basement membrane organization; brain development; and skeletal muscle fiber differentiation. Located in Golgi membrane. Is expressed in several structures, including central nervous system; future brain; genitourinary system; sensory organ; and spinal ganglion. Used to study Fukuyama congenital muscular dystrophy and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Orthologous to human FKTN (fukutin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 5.6), CNS E18 (RPKM 5.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B2; 4 28.74 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (53713745..53765785)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (53714107..53765785)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial dysfunction in skeletal muscle of fukutin-deficient mice is resistant to exercise- and 5-aminoimidazole-4-carboxamide ribonucleotide-induced rescue.
Title: Mitochondrial dysfunction in skeletal muscle of fukutin-deficient mice is resistant to exercise- and 5-aminoimidazole-4-carboxamide ribonucleotide-induced rescue.
Study shows molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the Fktn gene. Although cardiac Fktn elimination markedly reduced alpha-dystroglycan glycosylation and dystrophin-glycoprotein complex proteins in sarcolemma at all developmental stages, cardiac dysfunction was observed only in later adulthood, suggesting that membrane fragility is not the sole etiology of cardiac dysfunc...
Title: Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure.
Rapamycin treatment in fukutin-deficient mouse model of dystroglycanopathy delays/reduces disease burden.
Title: Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy.
Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice
Title: Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice.
Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar.
Title: Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.
disease-causing missense mutations cause abnormal folding and localization of fukutin protein
Title: Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
the highly hydrophobic transmembrane domain of Fukutin-1 was purified; the identity of the peptide and revealed that in hydrophobic solvents mimicking the bilayer, the peptide adopts a well-structured alpha-helix as predicted from the sequence.
Title: Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies.
From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity.
Title: Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
These results support the hypothesis that fukutin is involved in the glycosylation process of alpha-DG and that a defect in this process plays an essential role in the pathogenesis of FCMD.
Title: Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system.
Fukuyama-type congenital muscular dystrophy (FCMD) murine ortholog, Fcmd is 90% identical to that of its human counterpart
Title: Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation

General gene information

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Markers

Fktn (e-PCR), detects polymorphism
- UniSTS:516209

Fktn (e-PCR), detects polymorphism
- UniSTS:516210

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphotransferase activity, for other substituted phosphate groups	IDA Inferred from Direct Assay more info	PubMed
enables phosphotransferase activity, for other substituted phosphate groups	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	NAS Non-traceable Author Statement more info	PubMed
involved_in protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein O-linked mannosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked mannosylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein deglycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein glycosylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein glycosylation	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cis-Golgi network	ISO Inferred from Sequence Orthology more info
located_in cis-Golgi network	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ribitol-5-phosphate transferase FKTN

Names: Fukuyama type congenital muscular dystrophy (fukutin); Fukuyama type congenital muscular dystrophy homolog; fukuyama-type congenital muscular dystrophy protein; ribitol-5-phosphate transferase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001363126.1 → NP_001350055.1 ribitol-5-phosphate transferase FKTN isoform 2

Status: VALIDATED

Source sequence(s)

AL807745, AL844585

UniProtKB/TrEMBL

Q3UMQ5
NM_001363127.1 → NP_001350056.1 ribitol-5-phosphate transferase FKTN isoform 3

Status: VALIDATED

Source sequence(s)

AL807745, AL844585

Conserved Domains (1) summary

cl01378
Location:230 → 265

LicD; LicD family
NM_001363128.1 → NP_001350057.1 ribitol-5-phosphate transferase FKTN isoform 3

Status: VALIDATED

Source sequence(s)

AL807745, AL844585

Conserved Domains (1) summary

cl01378
Location:230 → 265

LicD; LicD family
NM_139309.5 → NP_647470.1 ribitol-5-phosphate transferase FKTN isoform 1

See identical proteins and their annotated locations for NP_647470.1

Status: VALIDATED

Source sequence(s)

AL807745, AL844585

Consensus CDS

CCDS18191.1

UniProtKB/Swiss-Prot

Q8R507, Q8VD64

Related

ENSMUSP00000114699.2, ENSMUST00000128667.8

Conserved Domains (1) summary

cl01378
Location:292 → 327

LicD; LicD family

RNA

NR_156448.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL807745, AL844585

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

53713745..53765785

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537941.5 → XP_006538004.1 ribitol-5-phosphate transferase FKTN isoform X1

UniProtKB/TrEMBL

A0A1Y7VM91

Related

ENSMUSP00000152867.2, ENSMUST00000221657.2

Conserved Domains (1) summary

cl01378
Location:331 → 366

LicD; LicD family
XM_006537943.5 → XP_006538006.1 ribitol-5-phosphate transferase FKTN isoform X2
XM_030253578.2 → XP_030109438.1 ribitol-5-phosphate transferase FKTN isoform X3